FAMILIAL POSTERIOR HELICAL EAR PITS AND WIEDEMANN-BECKWITH SYNDROME

被引：10

作者：

BEST, LG ^{[1
]}

机构：

[1] UNIV N DAKOTA, GRAND FORKS, ND 58201 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 02期

关键词：

EAR ANOMALIES; OSTEOPETROSIS; FAMILIAL; AUTOSOMAL DOMINANT INHERITANCE;

D O I：

10.1002/ajmg.1320400213

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Multiple cases of posterior helical ear pits (PHEP) with apparent autosomal dominant inheritance in a very large family are reported. There are at least 2 cases of Wiedemann-Beckwith syndrome (WBS) within this family. Three other instances of familial PHEP and/or WBS are presented. An individual with a somewhat atypical osteopetrosis and PHEP is described. The previous literature of PHEP and the association with WBS is reviewed.

引用

页码：188 / 195

页数：8

共 34 条

[1]

Aase J M, 1980, Birth Defects Orig Artic Ser, V16, P289

[2] DOMINANT INHERITANCE OF WIEDEMANN-BECKWITH SYNDROME - FURTHER EVIDENCE FOR TRANSMISSION OF UNSTABLE PREMUTATION THROUGH CARRIER WOMEN [J].

ALECK, KA ;

HADRO, TA .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 33 (02) :155-160

[3]

ALTMANN F, 1951, AMA ARCH OTOLARYNGOL, V54, P115

[4] Some characteristics of the external ear of American whites, American Indians, American negroes, Alaskan Esquimos, and Filipinos [J].

Bean, RB .

AMERICAN JOURNAL OF ANATOMY, 1915, 18 (02) :201-225

[5] NEUROBLASTOMA IN A CHILD WITH WIEDEMANN-BECKWITH SYNDROME [J].

CHITAYAT, D ;

FRIEDMAN, JM ;

DIMMICK, JE .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (03) :433-436

[6] BECKWITH-WIEDEMANN SYNDROME - 7 NEW CASES [J].

COHEN, MM ;

GORLIN, RJ ;

FEINGOLD, M ;

BENSEL, RWT .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1971, 122 (06) :515-&

[7]

COHEN MM, 1981, ASS CONGENITAL MALFO, P71

[8]

DIEM K, 1970, SCI TABLES, P692

[9]

Foucar HO, 1940, CAN MED ASSOC J, V43, P26

[10]

GORLIN RJ, 1990, SYNDROMES HEAD NECK, P325

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